Related gene-specific medical variations for Gene (Select 8898) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244697	NC_000011.9:g.(?_95568454)_(95657118_?)del	MTMR2	Deletion	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 3024576	GRCh37/hg19 11q21(chr11:95568454-95657287)x3	MTMR2	Copy number gain	not provided	GUncertain significance
Select item 1992325	NM_016156.6(MTMR2):c.1492T>C (p.Phe498Leu)	MTMR2 (F498L +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 1807047	NM_016156.6(MTMR2):c.1811G>A (p.Arg604Gln)	MTMR2 (R532Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807046	NM_016156.6(MTMR2):c.62G>T (p.Ser21Ile)	MTMR2 (S21I)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1330630	NM_016156.6(MTMR2):c.94C>G (p.His32Asp)	MTMR2 (H32D)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4B1	GUncertain significance
Select item 549685	NM_016156.6(MTMR2):c.1164G>A (p.Trp388Ter)	MTMR2 (W388* +1 more)	Single nucleotide variant (nonsense)	Charcot-Marie-Tooth disease type 4B1	GPathogenic

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